Knowledge is power: Would you share your genome data or keep it private?

This blog was written by two EpiPredict PhD fellows, Désirée Goubert (UMCG, NL) and Stefania Astrologo (UvA, NL), together with EpiPredict Partner Organisation Science Matters. The EpiPredict consortium receives funding from the EU Horizon 2020 program under Marie Sklodowska-Curie grant agreement no. 642691.

The blueprint of our being is our genome, our total DNA, which we all inherit from our parents. It holds information about how we look, but also about our health. All of this information is captured in a code written in a precise order of 4 letters at a time, the nucleotides A, C, G, T. Wouldn’t it be cool if we could read our genome as a book and find out hidden traits about ourselves that we never knew before?!

Nowadays this is actually possible! Recent developments in biotechnology have made enormous progress in the last couple of years to make this happen. When the first complete genome was read, or in technical terms “sequenced”, in 2003 the cost were as high as 3 billion €. But nowadays whole genome sequencing is accessible to almost everyone, with an approximate cost of 1000 €, a million times less than the initial cost!

Why do scientists want to read DNA and why should you want to do the same?

These low sequencing costs make us scientists very excited, because now we can afford to read the genome of many people. By comparing the genome of thousands of people, we try to decode what the DNA code means. In other words we try to find out which part of the genome is responsible for which particular characteristic. For example, we can compare the DNA code of healthy people with that of patients. The differences can help us to understand the cause of diseases and to try to cure or prevent diseases. When we know what the problem is, we can continue to work on solutions.

Every day, millions of people are taking drugs that won’t make them better

All this sounds really promising, but finding a change (mutation) in DNA that causes a disease is actually a bit more complicated. The reason is that patients with a similar disease are genetically different at many levels. This makes it first of all hard to identify the true cause of the disease in the genome, but, second, the genetic variation among patients can also make them respond differently to the same treatment. Treatments can work for one patient, but not for the other. The numbers at which this happens are shockingly high. Just two years ago, it was stated in Nature (a scientific paper) by Nicholas Schork that “Every day, millions of people are taking medications that will not help them.” The top ten highest-grossing medicinal drugs fail to improve the condition of patients between 96%-75% of the people who take the medication. Importantly, the drugs do work, but only for a small group of the users.

Image by Stefania Astrologo

Personalised Medicine: What do we need?

Personalised Medicine aims to overcome this inequality in patients’ treatment, because it takes the uniqueness of the genetic make-up of each patient into account. The genome from patients that do respond and that do not respond to a treatment is compared to find patterns that distinguish the two groups from each other. Once these patterns have been found, they can be used to predict the outcome of a treatment for each individual patient. Important is that the more patient data is available for scientists, the more precise the results will be. At least, scientists already have some knowledge about how various parts in the DNA are regulated together and are functioning as multiple networks that make our bodies work. Also, several networking mutations that cause disease have been identified and there are ideas how these networks may be cured. We expect that the success rate of such personalised treatment will be much higher when compared to conventional treatments. However, sequencing technology is not part of routine medical care yet. To make personalised medicine possible, genetic profiles of thousands of people need to be collected, stored and analysed, and more research on how the networks function is needed. Now that sequencing a complete genome is affordable, creating large libraries containing this genetic information seems to be within reach, but we find another challenge: privacy.

What is the risk of sharing DNA information?

Genomic data are inherently highly sensitive. The more we learn about the DNA code, the better we are able to define diseases, but also the better we become in predicting the risk of developing future diseases. This means that should your DNA code become public, it could be used by health insurance companies, employers and governments in discriminative ways. It is even so that due to the high similarity between genomic data amongst relatives reading the genome of one person can have consequences for all members of an entire family (a notorious example is given by the Lacks family). Only some countries have laws in place that forbid insurance companies to raise premiums for customers with predicted diseases.

Like the famous Spiderman’s quote teaches us: “with great power comes great responsibility”.

Interesting enough, many people do not seem to value privacy as the most important aspect. Numerous private companies like 23andMe, Gene By Gene, GeneYouIn, Innova, Illumina offer direct-to-consumer DNA testing kits. You just send a little bit of your spittle and within a few weeks you get back your genetic data, with which one can learn about your heredity, health and disease risk. Keep in mind that the conclusions are not always very accurate. The genomic data of for example 23andme can be shared to search for family members and it seems that many customers have no ethical concerns with this. Also on a daily basis, we gladly share lots of our very personal information without knowing with whom: our social network activities, location data, most visited websites, etc. are sold to third parties. Contradictory, when it comes down to sharing sensitive information for research purposes, there is a taboo around privacy and sharing.

Is it really about privacy?

This double standard makes life for researchers a bit hard. Of course we agree that protection of sensitive data is key, but we should like to stress the importance of genomic data for research that can help search for future (clinical) implications. Genomic data for research is treated with special care. For example, all the information originating from patients is coded and anonymous. In this way, the genome profiles cannot be coupled back to a specific person, except if the genome profiles from his/her family members is public.

This is the future

Step by step we are getting closer to a personalised medicine era. One successful example is the MammaPrint, a test that screens individual breast cancer patients for the risk of metastasis. However, at this point in time, most data is still very messy. We need to do much more research with the data we obtain. And our genomic data alone, although fascinating, does not gives us enough information. On top of the DNA letter code, there is a second, so-called epigenetic code. This code reveals information about chemical changes on top of the DNA. Some of these chemical marks are links to active DNA and other to inactive DNA; these links determine which parts of your DNA library is actually used by your cells. Interestingly, this code is much more flexible, the location of chemical marks can for example be influenced by your personal lifestyle and environmental conditions (more information can be found here). Our research in the context of the EU H2020 EpiPredict project is looking at this epigenetic code in breast cancer patients. Like for the DNA code, there are techniques available to read this epigenetic code, giving us more pieces of the puzzle of unravelling the information of (y)our genome. Ideally, in the future the sequencing technologies could be integrated in the clinics as a standard procedure, although it is hard to predict when this will be part of routine care.

Should you think twice about sharing any of your private genome information?

Yes, but think about what you share! Whom do you share it with? And what is the information used for? The genome holds the information of your life, in disease and in health, so share wisely.